Down’s Syndrome Flashcards by cerchia N | Brainscape

Q

Trisomy 21 is?

A

Down’s

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Q

Trisomy 18 is?

A

Edwards

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Q

Trisomy 13 is?

A

Patau

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Q

Trisomy 21 incidence?

A

1-600 birth

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Q

features of down’s at the head?

A

flat occiput

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Q

features of down’s at the face?

-4

A

up slanting palpebral fissures

epicanthic folds

small low-set ears

round/flat face

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Q

features of down’s at the mouth?

-2

A

protruding tongue

mouth open

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Q

features of down’s at the eyes?

A

Brushfield spots in iris

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Q

features of down’s at the hands?

-3

A

single palmar crease

short thick fingers (brachydactyly)

fingers curl in (clinodactyly)

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Q

features of down’s at the feet?

-1

A

“sandal gap” between big and first toe

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Q

features of down’s at the ear?

A

glue ear

struggler to hear

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Q

features of down’s in MSK?

-3

A

short height
short neck
hypotonia
hip dysplasia

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Q

sign of hypotonia in a down’s BABY?

A

more head lag

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Q

features of down’s in the psych system?

-2

A

learning difficulties

Alzheimer’s by age 40

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Q

features of down’s in the cardiac system?

-3

A

endocardial cushion defect

ventricular septal defect

secundum atrial septal defect

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Q

features of down’s in the resp system?

A

lots of resp infections

Q

features of down’s in the GI system?

A

duodenal atresia

Q

features of down’s in the skin system?

A

eczema

Q

features of down’s in the MSK system?

A

hip dysplasia

Q

features of down’s in the haematological system?

A

leukaemia

Q

features of down’s in the Genitalia?

-2

A

small penis and testicle

infertility common

Q

which disease (starting with H) is associated with down’s?

A

Hirschsprung’s disease

Q

Best Screening test for down’s syndrome antenatally?

A

Combined Test

Q

Combined Test is composed of what?

-3

A

nuchal scan US (crl)

+ bloods (BhCG, PAPP-A)

Q

Down’s result on combined test?

-3

A

nuchal scan US = thick

bloods = ↑BHCG, ↓PAPP-A

Q

foetus has positive result on combined test antenatally.

which IX will confirm the Down’s once child born?

positive result you are looking for?

A

Chromosome analysis - shows extra 21

Q

child has confirmed down’s.

who do you refer to?
-4

A

lots of paeds follow up as they grow

Refer to cardiology

Refer to audiology and optometry

Refer to Physio

Q

child has confirmed down’s.

what imaging do you do?
-2

why?

A

echo - murmurs, defects etc.

US hip - his dysplasia

Q

child has confirmed down’s.

what do you check in bloods?

why?

A

TFTs

Down’s assoc with hypothyroidism

Q

IQ score range of people with Down’s?

A

IQ score 25-70

Q

biggest killer of down’s pt?

A

Congenital heart defect

Q

at what age do down’s pt get Alzheimer’s?

A

age 40